Canonical Allele Identifier: CA402985107

Gene: NDUFS7

Linked Data

• dbSNP Id: rs104894705
• gnomAD v4: 19-1391006-G-T
• MyVariant Identifiers: chr19:g.1391005G>T (hg19) ; chr19:g.1391006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391006G>T , CM000681.2:g.1391006G>T	GRCh38
NC_000019.9:g.1391005G>T , CM000681.1:g.1391005G>T	GRCh37
NC_000019.8:g.1342005G>T	NCBI36
NG_008283.1:g.12123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.364G>T MANE Select	ENSP00000233627.9:p.Val122Leu
ENST00000233627.13:c.364G>T	ENSP00000233627.9:p.Val122Leu
ENST00000313408.11:c.364G>T	ENSP00000364262.5:p.Val122Leu
ENST00000414651.3:c.454G>T	ENSP00000406630.2:p.Val152Leu
ENST00000436115.6:n.2319G>T
ENST00000534853.5:c.*158G>T	ENSP00000442822.1:n.*158G>T
ENST00000535382.1:n.616G>T
ENST00000538523.5:n.420G>T
ENST00000538662.5:n.391G>T
ENST00000538929.5:n.454G>T
ENST00000539480.5:c.364G>T	ENSP00000443273.1:p.Val122Leu
ENST00000540530.5:n.355G>T
ENST00000543289.5:n.854G>T
ENST00000545446.5:n.655G>T
ENST00000546172.7:c.*360G>T	ENSP00000467094.1:n.*360G>T
ENST00000546283.5:c.364G>T	ENSP00000440348.1:p.Val122Leu
ENST00000618074.4:c.364G>T	ENSP00000477895.1:p.Val122Leu
ENST00000620479.4:c.364G>T	ENSP00000480984.1:p.Val122Leu
ENST00000622587.4:n.360G>T
NM_024407.4:c.364G>T	NP_077718.3:p.Val122Leu
XM_005259556.3:c.364G>T	XP_005259613.2:p.Val122Leu
NM_001363602.1:c.364G>T	NP_001350531.1:p.Val122Leu
XM_024451499.1:c.385G>T	XP_024307267.1:p.Val129Leu
NM_024407.5:c.364G>T MANE Select	NP_077718.3:p.Val122Leu
NM_001363602.2:c.364G>T	NP_001350531.1:p.Val122Leu